Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cataract
CUI: C0086543
Disease: Cataract
124 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.060 1.000 6 2005 2019
Congenital cataract
CUI: C0009691
Disease: Congenital cataract
104 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.020 1.000 2 2017 2017
Bilateral cataracts (disorder)
CUI: C0521707
Disease: Bilateral cataracts (disorder)
37 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.010 1.000 1 2016 2016
Coralliform cataract
CUI: C1392104
Disease: Coralliform cataract
3 0.851 0.200 2 208124291 frameshift variant TGGG/- del 0.010 1.000 1 2013 2013